Ontological Term Details

ebp contains the code for the enzyme 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase, which normally catalyzes the conversion of delta(8)-sterols to their corresponding delta(7)-isomers. a defect in this enzyme causes accumulation of 8-dehydrocholesterol and 8(9)cholestenol in the plasma.

Parent Term

Biochemical pathway

Parent Definition

A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.